Incidental Mutation 'IGL03065:Heph'
ID409658
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heph
Ensembl Gene ENSMUSG00000031209
Gene Namehephaestin
Synonymssla, Cpl, sex linked anemia, C130006F04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03065
Quality Score
Status
ChromosomeX
Chromosomal Location96455359-96574485 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 96527567 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 669 (I669N)
Ref Sequence ENSEMBL: ENSMUSP00000078301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033553] [ENSMUST00000079322] [ENSMUST00000113838]
Predicted Effect probably benign
Transcript: ENSMUST00000033553
AA Change: I711N

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033553
Gene: ENSMUSG00000031209
AA Change: I711N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Cu-oxidase_3 95 209 6.1e-10 PFAM
Blast:FA58C 252 372 4e-7 BLAST
Pfam:Cu-oxidase_3 450 562 2e-8 PFAM
Pfam:Cu-oxidase_3 806 905 1e-7 PFAM
Pfam:Cu-oxidase_2 942 1065 7.5e-17 PFAM
transmembrane domain 1109 1131 N/A INTRINSIC
low complexity region 1134 1143 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079322
AA Change: I669N

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000078301
Gene: ENSMUSG00000031209
AA Change: I669N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Cu-oxidase_3 95 209 2.6e-10 PFAM
Blast:FA58C 252 372 3e-7 BLAST
Pfam:Cu-oxidase_3 439 509 6.4e-7 PFAM
internal_repeat_1 688 798 9.28e-22 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000113838
AA Change: I711N

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109469
Gene: ENSMUSG00000031209
AA Change: I711N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Cu-oxidase_3 96 209 7.5e-10 PFAM
Blast:FA58C 252 372 4e-7 BLAST
Pfam:Cu-oxidase_3 439 562 1.8e-8 PFAM
Pfam:Cu-oxidase_3 806 905 8.2e-8 PFAM
Pfam:Cu-oxidase_2 941 1065 6.3e-16 PFAM
transmembrane domain 1109 1131 N/A INTRINSIC
low complexity region 1134 1143 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Hemizygous male and homozygous female mutants are small and pale at birth, exhibit a hypochromic anemia which tends to disappear with age. Mutants have impaired iron transport in the placenta and in the gut. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 83,938,514 M1322V possibly damaging Het
Adprh C T 16: 38,446,034 V249I probably benign Het
Als2 T C 1: 59,215,872 S109G probably benign Het
Bpifa1 T A 2: 154,147,642 N250K probably damaging Het
Capn9 A C 8: 124,605,559 Y423S probably damaging Het
Cd200r1 T G 16: 44,794,282 V308G probably benign Het
Cic T C 7: 25,285,821 probably benign Het
Col5a1 T A 2: 28,032,745 I275N possibly damaging Het
Col6a4 C A 9: 106,041,164 probably benign Het
Cpeb1 T C 7: 81,436,290 R35G probably benign Het
Cul1 A G 6: 47,495,081 Y52C probably damaging Het
Dctn1 T C 6: 83,192,493 F496L probably damaging Het
Dock11 G T X: 36,047,046 probably benign Het
Eaf2 C T 16: 36,828,122 R12H probably benign Het
Gcc1 T A 6: 28,418,402 Q644L possibly damaging Het
Gm44865 C T 7: 108,565,797 probably benign Het
Gm6614 C A 6: 141,992,502 L230F probably damaging Het
Golgb1 C T 16: 36,912,866 S825L probably benign Het
Gstp3 C T 19: 4,058,730 probably null Het
Il12rb1 A T 8: 70,820,558 Y635F possibly damaging Het
Ing3 G A 6: 21,971,222 A331T probably benign Het
Ipo8 T A 6: 148,784,707 I762F probably benign Het
Itpr3 G A 17: 27,091,933 R510Q probably damaging Het
Kif16b A G 2: 142,619,913 Y1273H probably damaging Het
Map3k14 T C 11: 103,225,101 E784G probably damaging Het
Mpdz A T 4: 81,292,565 N1694K probably damaging Het
Myh13 T C 11: 67,344,853 F648S probably damaging Het
Myh4 A G 11: 67,259,156 H1847R probably benign Het
Ncoa7 T A 10: 30,647,997 D840V probably damaging Het
Nxpe2 T A 9: 48,319,692 N459I possibly damaging Het
Olfr1297 T C 2: 111,621,190 K295E probably damaging Het
Olfr1426 C A 19: 12,088,611 L60F possibly damaging Het
Olfr730 C A 14: 50,187,008 D70Y probably damaging Het
Ovgp1 T C 3: 105,986,366 F485S probably benign Het
Parp4 G T 14: 56,637,869 A1182S probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pla2g15 G A 8: 106,160,219 R114H probably benign Het
Plppr3 T A 10: 79,866,046 T321S probably benign Het
Rnf113a1 A G X: 37,192,095 D235G probably benign Het
Rsrp1 A G 4: 134,924,389 T155A possibly damaging Het
Simc1 G T 13: 54,537,212 C87F probably damaging Het
Slco1a5 A G 6: 142,248,843 probably benign Het
Smyd5 A G 6: 85,442,164 D276G possibly damaging Het
Spata5 T C 3: 37,432,179 V350A possibly damaging Het
Tmem132c A G 5: 127,563,624 Y953C probably damaging Het
Trank1 T A 9: 111,390,293 S2033T possibly damaging Het
Trim69 A G 2: 122,178,634 T392A probably damaging Het
Tsks T C 7: 44,943,300 V6A probably damaging Het
Yjefn3 A G 8: 69,889,556 probably benign Het
Zfp263 T G 16: 3,746,480 D211E probably benign Het
Zfp994 A T 17: 22,202,680 F51L probably damaging Het
Znfx1 A T 2: 167,055,765 M413K probably benign Het
Other mutations in Heph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Heph APN X 96527678 missense probably damaging 1.00
IGL01515:Heph APN X 96558100 missense probably damaging 1.00
IGL02437:Heph APN X 96473027 missense probably benign 0.09
R0555:Heph UTSW X 96558084 missense probably damaging 1.00
R1864:Heph UTSW X 96529486 missense probably damaging 1.00
R1871:Heph UTSW X 96499084 missense probably benign 0.32
R4117:Heph UTSW X 96500615 missense probably benign 0.00
Z1088:Heph UTSW X 96466031 missense probably damaging 1.00
Z1176:Heph UTSW X 96554922 missense probably damaging 0.99
Posted On2016-08-02